E6K (p.Glu6Lys) variant of RPE65 (Retinoid isomerohydrolase)
E6K (p.Glu6Lys) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- TOPMed rs1315607990
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.67
- MetaLR 0.60
- MetaSVM 0.26
- CADD 23.10
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available